Abstract
A new dominant mutation, tight-skin (Tsk), is located on Chromosome 2, two recombination units distal to pallid (pa). Heterozygotes (Tsk/+) have tight skins with marked hyperplasia of the subcutaneous loose connective tissues, increased growth of cartilage and bone, and small tendons with hyperplasia of the tendon sheaths. In the loose connective tissue there are large accumulations of microfibrils in the intercellular space. In spite of the increased skeletal size, body weight is not increased. Increase in size of the thoracic skeleton is especially pronounced and leads to pathologic distentsion of the hollow thoracic viscera. Concentration of growth hormone in the pituitary and plasma is normal. Homozygotes (Tsk/TSK) die in utero at 7 to 8 days of gestation. We propose the hypothesis that Tsk might act by causing defective cell receptors with high affinity for a somatomedin-like factor promoting growth of cartilage, bone, and connective tissue and low affinity for a multiplication-stimulating factor promoting embryonic growth.
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- Ashley C. A., Feder N. Glycol methacrylate in histopathology. A study of central necrosis of the liver using a water-miscible plastic as embedding medium. Arch Pathol. 1966 May;81(5):391–397. [PubMed] [Google Scholar]
- Cheever E. V., Seavey B. K., Lewis U. J. Prolactin of normal and dwarf mice. Endocrinology. 1969 Oct;85(4):698–703. doi: 10.1210/endo-85-4-698. [DOI] [PubMed] [Google Scholar]
- Daughaday W. H., Herington A. C., Phillips L. S. The regulation of growth by endocrines. Annu Rev Physiol. 1975;37:211–244. doi: 10.1146/annurev.ph.37.030175.001235. [DOI] [PubMed] [Google Scholar]
- Greenlee T. K., Jr, Ross R., Hartman J. L. The fine structure of elastic fibers. J Cell Biol. 1966 Jul;30(1):59–71. doi: 10.1083/jcb.30.1.59. [DOI] [PMC free article] [PubMed] [Google Scholar]
- HALMI N. S. Differentiation of two types of basophils in the adenohypophysis of the rat and the mouse. Stain Technol. 1952 Jan;27(1):61–64. doi: 10.3109/10520295209105061. [DOI] [PubMed] [Google Scholar]
- LOSTROH A. J., LI C. H. Effect of growth hormone and thyroxine on body weight of hypophysectomized C3H mice. Endocrinology. 1958 Apr;62(4):484–492. doi: 10.1210/endo-62-4-484. [DOI] [PubMed] [Google Scholar]
- Pierson R. W., Jr, Temin H. M. The partial purification from calf serum of a fraction with multiplication-stimulating activity for chicken fibroblasts in cell culture and with non-suppressible insulin-like activity. J Cell Physiol. 1972 Jun;79(3):319–330. doi: 10.1002/jcp.1040790302. [DOI] [PubMed] [Google Scholar]
- Ross R., Bornstein P. The elastic fiber. I. The separation and partial characterization of its macromolecular components. J Cell Biol. 1969 Feb;40(2):366–381. doi: 10.1083/jcb.40.2.366. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Schindler W. J., Hutchins M. O., Septimus E. J. Growth hormone secretion and control in the mouse. Endocrinology. 1972 Aug;91(2):483–490. doi: 10.1210/endo-91-2-483. [DOI] [PubMed] [Google Scholar]
- Schlager G., Weibust R. S. Genetic control of blood pressure in mice. Genetics. 1967 Mar;55(3):497–506. doi: 10.1093/genetics/55.3.497. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Van Wyk J. J., Underwood L. E., Hintz R. L., Clemmons D. R., Voina S. J., Weaver R. P. The somatomedins: a family of insulinlike hormones under growth hormone control. Recent Prog Horm Res. 1974;30(0):259–318. [PubMed] [Google Scholar]